Author Brockmann, Knut
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2001 | Journal Article
Endocrinological study on growth retardation in Rett syndrome
Huppke, P.; Roth, C.; Christen, H.-J.; Brockmann, K. & Hanefeld, F. (2001)
Acta Paediatrica, 90(11) pp. 1257-1261.
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2001 | Journal Article
Myelinopathia centralis diffusa (vanishing white matter disease): Evidence of apoptotic oligodendrocyte degeneration in early lesion development
Bruck, W. W.; Herms, J.; Brockmann, K.; Schulz-Schaeffer, W. J. & Hanefeld, F. (2001)
Annals of Neurology, 50(4) pp. 532-536. DOI: https://doi.org/10.1002/ana.1227
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2001 | Journal Article | Letter Note
Progressive elevation of liver enzymes in a child treated with sulthiame
Brockmann, K. & Hanefeld, F. (2001)
Neuropediatrics, 32(3) pp. 165-166. DOI: https://doi.org/10.1055/s-2001-16617
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2001 | Journal Article
Autosomal dominant Glut-1 deficiency syndrome and familial epilepsy
Brockmann, K.; Wang, D.; Korenke, C. G.; von Moers, A. ; Ho, Y. Y.; Pascual, J. M. & Kuang, K. et al. (2001)
Annals of Neurology, 50(4) pp. 476-485. DOI: https://doi.org/10.1002/ana.1222
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2002 | Journal Article
Eosinophilic fasciitis leading to painless contractures
Huppke, P.; Wilken, B.; Brockmann, K.; Sattler, B. & Hanefeld, F. (2002)
European Journal of Pediatrics, 161(10) pp. 528-530. DOI: https://doi.org/10.1007/s00431-002-1038-1
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2002 | Journal Article | Letter Note
Juvenile horseplay purpura
Brockmann, K. & Diepold, K. (2002)
ARCHIVES OF DERMATOLOGY, 138(10). DOI: https://doi.org/10.1001/archderm.138.10.1384
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2002 | Journal Article
Succinate in dystrophic white matter: A proton magnetic resonance spectroscopy finding characteristic for complex II deficiency
Brockmann, K.; Bjornstad, A.; Dechent, P.; Korenke, C. G.; Smeitink, J.; Trijbels, J. & Athanassopoulos, S. et al. (2002)
Annals of Neurology, 52(1) pp. 38-46. DOI: https://doi.org/10.1002/ana.10232
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2002 | Journal Article
Infantile Alexander disease: A GFAP mutation in monozygotic twins and novel mutations in two other patients
Meins, M.; Brockmann, K.; Yadav, S.; Haupt, M.; Sperner, J.; Stephani, U. & Hanefeld, F. (2002)
Neuropediatrics, 33(4) pp. 194-198. DOI: https://doi.org/10.1055/s-2002-34495
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2002 | Journal Article
EEG features of Glut-1 deficiency syndrome
von Moers, A.; Brockmann, K.; Wang, D.; Korenke, C. G.; Huppke, P.; De Vivo, D. C. & Hanefeld, F. (2002)
Epilepsia, 43(8) pp. 941-945. DOI: https://doi.org/10.1046/j.1528-1157.2002.50401.x
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2003 | Journal Article
Quantitative proton magnetic resonance spectroscopy of children with adrenoleukodystrophy before and after hematopoietic stem cell transplantation
Wilken, B.; Dechent, P.; Brockmann, K.; Finsterbusch, J.; Baumann, M.; Ebell, W. & Korenke, C. G. et al. (2003)
Neuropediatrics, 34(5) pp. 237-246.
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2003 | Journal Article
Megalencephalic leukoencephalopathy with subcortical cysts in an adult: quantitative proton MR spectroscopy and diffusion tensor MRI
Brockmann, K.; Finsterbusch, J.; Terwey, B.; Frahm, J. & Hanefeld, F. (2003)
Neuroradiology, 45(3) pp. 137-142. DOI: https://doi.org/10.1007/s00234-002-0931-7
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2003 | Journal Article
Progressive muscle weakness after high-dose steroids in two children with CIDP
Rostasy, K.; Diepold, K.; Buckard, J. A.; Brockmann, K.; Wilken, B. & Hanefeld, F. (2003)
Pediatric Neurology, 29(3) pp. 236-238. DOI: https://doi.org/10.1016/S0887-8994(03)00222-4
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2003 | Journal Article
Deep cerebral venous sinus thrombosis often presents with neuropsychologic symptoms
von Mering, M.; Stiefel, M.; Brockmann, K. & Nau, R. (2003)
Journal of Clinical Neuroscience, 10(3) pp. 310-312. DOI: https://doi.org/10.1016/S0967-5868(03)00017-1
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2003 | Journal Article
Haematopoietic stem cell transplantation in 12 patients with cerebral X-linked adrenoleukodystrophy
Baumann, M.; Korenke, C.; Weddige-Diedrichs, A. ; Wilichowski, E.; Hunneman, D. H.; Wilken, B. & Brockmann, K. et al. (2003)
European Journal of Pediatrics, 162(1) pp. 6-14. DOI: https://doi.org/10.1007/s00431-002-1097-3
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2003 | Journal Article
Cerebral proton magnetic resonance spectroscopy of a patient with giant axonal neuropathy
Brockmann, K.; Pouwels, P. J.; Dechent, P.; Flanigan, K. M.; Frahm, J. & Hanefeld, F. (2003)
Brain and Development, 25(1) pp. 45-50. DOI: https://doi.org/10.1016/s0387-7604(02)00154-7
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2003 | Journal Article
A novel GFAP mutation and disseminated white matter lesions: Adult Alexander disease?
Brockmann, K.; Meins, M.; Taubert, A.; Trappe, R.; Grond, M. & Hanefeld, F. (2003)
European Neurology, 50(2) pp. 100-105. DOI: https://doi.org/10.1159/000072507
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2004 | Journal Article | Letter Note
Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: Application to newborn screening for Krabbe disease
Li, Y. J.; Brockmann, K.; Turecek, F.; Scott, C. R. & Gelb, M. H. (2004)
Clinical Chemistry, 50(3) pp. 638-640. DOI: https://doi.org/10.1373/clinchem.2003.028381
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2004 | Journal Article
Tarsal tunnel syndrome in a 7-year-old boy
Brockmann, K.; Schneider-Sickert, F.; Kolenda, H.; Aden, I. & Hanefeld, F. (2004)
European Journal of Pediatrics, 163(1) pp. 46-47. DOI: https://doi.org/10.1007/s00431-003-1360-2
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2004 | Journal Article
A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene
Dumitrescu, A. M.; Liao, X. H.; Best, T. B.; Brockmann, K. & Refetoff, S. (2004)
The American Journal of Human Genetics, 74(1) pp. 168-175. DOI: https://doi.org/10.1086/380999
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2004 | Journal Article
Myelinopathia centralis diffusa (vanishing white matter disease) in a four-year-old boy
Sinzig, J. K.; Seitz, A.; Brockmann, K. & Konig, S. (2004)
Journal of Neuroradiology, 31(2) pp. 142-144. DOI: https://doi.org/10.1016/S0150-9861(04)96981-7
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2005 | Journal Article
Moyamoya syndrome associated with hemolytic anemia due to Hb Alesha
Brockmann, K.; Stolpe, S.; Fels, C.; Khan, N.; Kulozik, A. E. & Pekrun, A. (2005)
Journal of Pediatric Hematology/Oncology, 27(8) pp. 436-440. DOI: https://doi.org/10.1097/01.mph.0000175409.21342.ea
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2005 | Journal Article
X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene
Brockmann, K.; Dumitrescu, A. M.; Best, T. T.; Hanefeld, F. & Refetoff, S. (2005)
Journal of Neurology, 252(6) pp. 663-666. DOI: https://doi.org/10.1007/s00415-005-0713-3
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2005 | Journal Article
Malignant ectomesenchymoma of the cerebrum. Case report and discussion of therapeutic options
Weiss, E.; Albrecht, C. F.; Herms, J.; Behnke-Mursch, J.; Pekrun, A.; Brockmann, K. & Hess, C. F. (2005)
European Journal of Pediatrics, 164(6) pp. 345-349. DOI: https://doi.org/10.1007/s00431-005-1646-7
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2005 | Journal Article
Quantitative proton MRS of Pelizaeus-Merzbacher disease - Evidence of dys- and hypomyelination
Hanefeld, F.; Brockmann, K.; Pouwels, P. J. W.; Wilken, B.; Frahm, J. & Dechent, P. (2005)
Neurology, 65(5) pp. 701-706. DOI: https://doi.org/10.1212/01.wnl.0000174642.32187.20
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2006 | Journal Article
Magnetic resonance imaging and proton magnetic resonance spectroscopy of megalencephaly and dilated Virchow-Robin spaces
Groeschel, S.; Brockmann, K.; Dechent, P.; Wilichowski, E.; Frahm, J. & Hanefeld, F. (2006)
Pediatric Neurology, 34(1) pp. 35-40. DOI: https://doi.org/10.1016/j.pediatrneurol.2005.05.012
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2007 | Conference Abstract
Paroxysmal exertion-induced dyskinesia, hemolytic anemia and epilepsy: a novel syndrome caused by the combination of an energy deficit and electrolyte shift
Weber, Y. G.; Storch, A.; Wuttke, T. V.; Brockmann, K.; Kempfle, J.; Blazevic, D. & Pekrun, A. et al. (2007)
Epilepsia, 48 pp. 9-10. 5th Joint Meeting of the German, Austrian, and Swiss Sections of the International League Against Epilepsy, Basle, SWITZERLAND.
Oxford: Blackwell Publishing.
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2007 | Conference Abstract
Paroxysmal exertion-induced dyskinesia, haemolytic anaemia and epilepsy: Energy deficit and electrolyte shift
Weber, Y.; Storch, A.; Wuttke, T. V.; Brockmann, K.; Pekrun, A.; Kempfle, J. & Lehmann-Horn, F. (2007)
Epilepsia, 48 27th International Epilepsy Congress, Singapore, SINGAPORE.
Oxford: Blackwell Publishing.
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2007 | Review
Valproic acid-induced pancreatitis: 16 new cases and a review of the literature
Gerstner, T.; Buesing, D.; Bell, N.; Longin, E.; Kasper, J.-M.; Klostermann, W.& Hebing, B. et al. (2007)
Journal of Gastroenterology, 42(1) pp. 39-48.
Tokyo: Springer. DOI: https://doi.org/10.1007/s00535-006-1961-4
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2007 | Journal Article
Sensitivity and specificity of qualitative muscle ultrasound in assessment of suspected neuromuscular disease in childhood
Brockmann, K.; Becker, P.; Schreiber, G.; Neubert, K.; Brunner, E. & Boennemann, C. (2007)
Neuromuscular Disorders, 17(7) pp. 517-523. DOI: https://doi.org/10.1016/j.nmd.2007.03.015
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2007 | Journal Article
Virchow-Robin spaces on magnetic resonance images of children with adrenoleukodystrophy
Groeschel, S.; Brockmann, K. & Hanefeld, F. (2007)
European Journal of Paediatric Neurology, 11(3) pp. 142-145. DOI: https://doi.org/10.1016/j.ejpn.2006.11.014
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2007 | Journal Article
Quantitative proton MRS of cerebral metabolites in laminin alpha 2 chain deficiency
Brockmann, K.; Dechent, P.; Boennemann, C.; Schreiber, G.; Frahm, J. & Hanefeld, F. (2007)
Brain and Development, 29(6) pp. 357-364. DOI: https://doi.org/10.1016/j.braindev.2006.11.003
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2007 | Journal Article
Hypomyelination with atrophy of the basal ganglia and cerebellum - Follow-up and pathology
van der Knaap, M. S.; Linnankivi, T.; Paetau, A.; Feigenbaum, A.; Wakusawa, K.; Haginoya, K. & Kohler, W. et al. (2007)
Neurology, 69(2) pp. 166-171. DOI: https://doi.org/10.1212/01.wnl.0000265592.74483.a6
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2008 | Journal Article
Monozygotic twins discordant for Proteus syndrome
Brockmann, K.; Happle, R.; Oeffner, F. & Koenig, A. (2008)
American Journal of Medical Genetics Part A, 146A(16) pp. 2122-2125. DOI: https://doi.org/10.1002/ajmg.a.32417
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2008 | Journal Article
GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak
Weber, Y. G.; Storch, A.; Wuttke, T. V.; Brockmann, K.; Kempfle, J.; Maljevic, S. & Margari, L. et al. (2008)
Journal of Clinical Investigation, 118(6) pp. 2157-2168. DOI: https://doi.org/10.1172/JCI34438
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2008 | Journal Article
Frequency of GCH1 deletions in dopa-responsive dystonia
Zirn, B.; Steinberger, D.; Troidl, C.; Brockmann, K.; von der Hagen, M.; Feiner, C. & Henkel, A. et al. (2008)
Journal of Neurology Neurosurgery & Psychiatry, 79(2) pp. 183-186. DOI: https://doi.org/10.1136/jnnp.2007.128413
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2009 | Conference Abstract
PAROXYSMAL EXERTION-INDUCED DYSKINESIA, HEMOLYTIC ANEMIA AND EPILEPSY: ENERGY DEFICIT AND ELECTROLYTE SHIFT
Storch, A.; Weber, Y.; Wuttke, T. V.; Brockmann, K.; Pekrun, A.; Kempfle, J. & Lehmann-Horn, F. et al. (2009)
Epilepsia, 50 pp. 74-75. , Berlin, GERMANY.
Malden: Wiley-blackwell Publishing, Inc.
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2009 | Conference Abstract
GLUT1 MUTATIONS IN PATIENTS WITH PAROXYSMAL EXERTION-INDUCED DYSKINESIA
Weber, Y. G.; Storch, A.; Wuttke, T. V.; Brockmann, K.; Kempfle, J.; Maljevic, S. & Margari, L. et al. (2009)
Epilepsia, 50 6th Joint Meeting of the German, Austrian, and Swiss Sections of the International-League-Against-Epilepsy, Rostock, GERMANY.
Malden: Wiley-blackwell Publishing, Inc.
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2009 | Conference Paper
The expanding phenotype of GLUT1-deficiency syndrome
Brockmann, K. (2009)
Brain and Development, 31(7) pp. 545-552. 3rd German-Japanese Symposium on Pediatric Neurology, Munich, GERMANY.
Amsterdam: Elsevier Science Bv. DOI: https://doi.org/10.1016/j.braindev.2009.02.008
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2009 | Journal Article
Overlap of Moebius and Oromandibular Limb Hypogenesis Syndrome With Gastroschisis and Pulmonary Hypoplasia
Brockmann, K.; Backes, H.; Auber, B.; Kriebel, T.; Stellmer, F. & Zoll, B. (2009)
American Journal of Medical Genetics Part A, 149A(12) pp. 2832-2837. DOI: https://doi.org/10.1002/ajmg.a.33111
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2009 | Journal Article |
Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation
Auber, B.; Bruemmer, V.; Zoll, B.; Burfeind, P.; Boehm, D.; Liehr, T. & Brockmann, K. et al. (2009)
Molecular Cytogenetics, 2 art. 10. DOI: https://doi.org/10.1186/1755-8166-2-10
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2009 | Journal Article
Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response
Rice, G. I.; Bond, J.; Asipu, A.; Brunette, R. L.; Manfield, I. W.; Carr, I. M. & Fuller, J. C. et al. (2009)
Nature Genetics, 41(7) pp. 829-U89. DOI: https://doi.org/10.1038/ng.373
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2010 | Journal Article
Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria
O'Driscoll, M. C.; Daly, S. B.; Urquhart, J. E.; Black, G. C. M.; Pilz, D. T.; Brockmann, K. & McEntagart, M. et al. (2010)
The American Journal of Human Genetics, 87(3) pp. 354-364. DOI: https://doi.org/10.1016/j.ajhg.2010.07.012
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2010 | Journal Article | Letter Note
Identification of a De Novo Mutation in SPG11
Denora, P. S.; Brockmann, K.; Ciccolella, M.; Truchetto, J.; Stevanin, G. & Santorelli, F. M. (2010)
Movement Disorders, 25(4) pp. 501-503. DOI: https://doi.org/10.1002/mds.22964
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2010 | Journal Article
Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy
Cirak, S.; von Deimling, F.; Sachdev, S.; Errington, W. J.; Herrmann, R.; Boennemann, C. & Brockmann, K. et al. (2010)
Brain, 133 pp. 2123-2135. DOI: https://doi.org/10.1093/brain/awq108
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2011 | Journal Article |
A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome
Lindhurst, M. J.; Sapp, J. C.; Teer, J. K.; Johnston, J. J.; Finn, E. M.; Peters, K. & Turner, J. et al. (2011)
New England Journal of Medicine, 365(7) pp. 611-619. DOI: https://doi.org/10.1056/NEJMoa1104017
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2011 | Journal Article
Familial Intellectual Disability and Autistic Behavior Caused by a Small FMR2 Gene Deletion
Stettner, G. M.; Shoukier, M.; Hoeger, C.; Brockmann, K. & Auber, B. (2011)
American Journal of Medical Genetics Part A, 155A(8) pp. 2003-2007. DOI: https://doi.org/10.1002/ajmg.a.34122
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2011 | Journal Article | Letter Note
Towards a more palatable treatment for Glut1 deficiency syndrome
Brockmann, K. (2011)
Developmental Medicine & Child Neurology, 53(7) pp. 580-581. DOI: https://doi.org/10.1111/j.1469-8749.2011.03946.x
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2011 | Journal Article
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia
Namavar, Y.; Barth, P. G.; Kasher, P. R.; van Ruissen, F.; Brockmann, K.; Bernert, G. & Writzl, K. et al. (2011)
Brain, 134 pp. 143-156. DOI: https://doi.org/10.1093/brain/awq287
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2011 | Journal Article
Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency
Danhauser, K.; Iuso, A.; Haack, T. B.; Freisinger, P.; Brockmann, K.; Mayr, J. A. & Meitinger, T. et al. (2011)
Molecular Genetics and Metabolism, 103(2) pp. 161-166. DOI: https://doi.org/10.1016/j.ymgme.2011.03.004
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2012 | Journal Article
A de novo interstitial deletion of 2p23.3-24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy
Shoukier, M.; Schröder, J.; Zoll, B.; Burfeind, P.; Freiberg, C.; Klinge, L. & Kriebel, T. et al. (2012)
American Journal of Medical Genetics Part A, 158A(2) pp. 429-433. DOI: https://doi.org/10.1002/ajmg.a.34427
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2012 | Journal Article
Early-Onset LBSL: How Severe Does It Get?
Steenweg, M. E.; van Berge, L.; van Berkel, C. G. M.; de Coo, I. F. M.; Temple, I. K.; Brockmann, K. & Mendonca, C. I. P. et al. (2012)
Neuropediatrics, 43(6) pp. 332-338. DOI: https://doi.org/10.1055/s-0032-1329395
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2012 | Journal Article
A 16q12 Microdeletion in a Boy With Severe Psychomotor Delay, Craniofacial Dysmorphism, Brain and Limb Malformations, and a Heart Defect
Shoukier, M.; Wickert, J.; Schroeder, J.; Bartels, I.; Auber, B.; Zoll, B. & Salinas-Riester, G. et al. (2012)
American Journal of Medical Genetics Part A, 158A(1) pp. 229-235. DOI: https://doi.org/10.1002/ajmg.a.34387
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2012 | Journal Article
PRRT2 Mutations Are the Major Cause of Benign Familial Infantile Seizures
Schubert, J.; Paravidino, R.; Becker, F.; Berger, A.; Bebek, N.; Bianchi, A. & Brockmann, K. et al. (2012)
Human Mutation, 33(10) pp. 1439-1443. DOI: https://doi.org/10.1002/humu.22126
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2013 | Conference Abstract
Collagen type XII: A new congenital matrix and muscle disease
Zou, Y.; Zwolanek, D.; Hu, Y.; Schreiber, G.; Brockmann, K.; Izu, Y. & Tian, Z. et al. (2013)
Neuromuscular Disorders, 23(9-10) pp. 739-740. , CA.
Oxford: Pergamon-elsevier Science Ltd. DOI: https://doi.org/10.1016/j.nmd.2013.06.380
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2013 | Review
Episodic Movement Disorders: From Phenotype to Genotype and Back
Brockmann, K. (2013)
Current Neurology and Neuroscience Reports, 13(10).
Springer. DOI: https://doi.org/10.1007/s11910-013-0379-7
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2013 | Journal Article
Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations
Rudnik-Schoeneborn, S.; Senderek, J.; Jen, J. C.; Houge, G.; Seeman, P.; Puchmajerova, A. & Graul-Neumann, L. et al. (2013)
Neurology, 80(5) pp. 438-446. DOI: https://doi.org/10.1212/WNL.0b013e31827f0f66
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2013 | Journal Article
Acute onset of adult Alexander disease
Schmidt, H.; Kretzschmar, B.; Lingor, P.; Pauli, S.; Schramm, P.; Otto, M. & Ohlenbusch, A. et al. (2013)
Journal of the Neurological Sciences, 331(1-2) pp. 152-154. DOI: https://doi.org/10.1016/j.jns.2013.05.006
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2014 | Journal Article
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum
Thorwarth, A.; Schnittert-Huebener, S.; Schrumpf, P.; Mueller, I.; Jyrch, S.; Dame, C. & Biebermann, H. et al. (2014)
Journal of Medical Genetics, 51(6) pp. 375-387. DOI: https://doi.org/10.1136/jmedgenet-2013-102248
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2014 | Journal Article |
Intragenic duplication of EHMT1 gene results in Kleefstra syndrome
Schwaibold, E. M. C.; Smogavec, M. ; Hobbiebrunken, E.; Winter, L.; Zoll, B.; Burfeind, P. & Brockmann, K. et al. (2014)
Molecular Cytogenetics, 7 art. 74. DOI: https://doi.org/10.1186/s13039-014-0074-7
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2014 | Journal Article
The LYR Factors SDHAF1 and SDHAF3 Mediate Maturation of the Iron-Sulfur Subunit of Succinate Dehydrogenase
Na, U. N.; Yu, W.; Cox, J.; Bricker, D. K.; Brockmann, K.; Rutter, J. & Thummel, C. S. et al. (2014)
Cell Metabolism, 20(2) pp. 253-266. DOI: https://doi.org/10.1016/j.cmet.2014.05.014
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2014 | Journal Article
Glycine receptor antibodies in a boy with focal epilepsy and episodic behavioral disorder
Wuerfel, E.; Bien, C. G.; Vincent, A.; Woodhall, M. & Brockmann, K. (2014)
Journal of the Neurological Sciences, 343(1-2) pp. 180-182. DOI: https://doi.org/10.1016/j.jns.2014.05.014
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2014 | Journal Article |
High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.
Spiegler, S.; Najm, J.; Liu, J.; Gkalympoudis, S.; Schröder, W.; Borck, G. & Brockmann, K. et al. (2014)
Molecular genetics & genomic medicine, 2(2) pp. 176-185. DOI: https://doi.org/10.1002/mgg3.60
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2015 | Conference Abstract
Photosensitive form of trichothiodystrophy associated with a novel mutation in the XPD gene
Brauns, B.; Schubert, S.; Lehmann, J.; Laspe, P.; Koerner, A.; Brockmann, K. & Schoen, M. P. et al. (2015)
JDDG Journal der Deutschen Dermatologischen Gesellschaft, 13
Hoboken: Wiley-blackwell.
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2015 | Journal Article
Disturbed Neuronal ER-Golgi Sorting of Unassembled Glycine Receptors Suggests Altered Subcellular Processing Is a Cause of Human Hyperekplexia
Schaefer, N.; Kluck, C. J.; Price, K. L.; Meiselbach, H.; Vornberger, N.; Schwarzinger, S. & Hartmann, S. et al. (2015)
Journal of Neuroscience, 35(1) pp. 422-437. DOI: https://doi.org/10.1523/JNEUROSCI.1509-14.2015
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2016 | Conference Abstract
Photosensitive form of trichothiodystrophy associated with a novel mutation in the XPD gene
Brauns, B.; Schubert, S.; Lehmann, J.; Laspe, P.; Koerner, A.; Brockmann, K. & Schoen, M. P. et al. (2016)
Experimental Dermatology, 25(3) 43rd Annual Meeting of the Arbeitsgemeinschaft-Dermatologische-Forschung-e-V (ADF), Vienna, AUSTRIA.
Hoboken: Wiley-blackwell.
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2016 | Journal Article |
Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study
Wente, S.; Schroeder, S.; Buckard, J. A.; Buettel, H.-M.; von Deimling, F.; Diener, W. & Haeussler, M. et al. (2016)
Orphanet Journal of Rare Diseases, 11 art. 104. DOI: https://doi.org/10.1186/s13023-016-0486-z
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2016 | Journal Article
Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum
Smogavec, M.; Cleall, A.; Hoyer, J.; Lederer, D.; Nassogne, M.-C.; Palmer, E. E. & Deprez, M. et al. (2016)
Journal of Medical Genetics, 53(12) pp. 820-827. DOI: https://doi.org/10.1136/jmedgenet-2016-103880
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2016 | Journal Article
Transition of Adolescents with Chronic Neurologic Disorders into Adult Health Care
Albers, L.; Koch, E.-L.; Lingen, M.; von Kries, R. & Brockmann, K. (2016)
Klinische Pädiatrie, 228(5) pp. 251-256. DOI: https://doi.org/10.1055/s-0042-111690
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2016 | Journal Article
Magnetic Resonance Imaging Spectrum of Succinate Dehydrogenase-Related Infantile Leukoencephalopathy
Helman, G.; Caldovic, L.; Whitehead, M. T.; Simons, C.; Brockmann, K.; Edvardson, S. & Bai, R. et al. (2016)
Annals of Neurology, 79(3) pp. 379-386. DOI: https://doi.org/10.1002/ana.24572
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2016 | Journal Article |
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome)
Micalizzi, A.; Poretti, A.; Romani, M.; Ginevrino, M.; Mazza, T.; Aiello, C. & Zanni, G. et al. (2016)
European Journal of Human Genetics, 24(9) pp. 1262-1267. DOI: https://doi.org/10.1038/ejhg.2016.19
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2016 | Journal Article | Letter Note
Photosensitive form of trichothiodystrophy associated with a novel mutation in the XPD gene
Brauns, B.; Schubert, S.; Lehmann, J.; Laspe, P.; Koerner, A.; Brockmann, K. & Schoen, M. P. et al. (2016)
Photodermatology Photoimmunology & Photomedicine, 32(2) pp. 110-112. DOI: https://doi.org/10.1111/phpp.12225
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2019 | Journal Article |
Structural brain anomalies in patients with FOXG 1 syndrome and in Foxg1+/− mice
Pringsheim, M.; Mitter, D.; Schröder, S.; Warthemann, R.; Plümacher, K.; Kluger, G. & Baethmann, M. et al. (2019)
Annals of Clinical and Translational Neurology, 6(4) pp. 655-668. DOI: https://doi.org/10.1002/acn3.735
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2020 | Journal Article |
The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood
Döring, J. H.; Saffari, A.; Bast, T.; Brockmann, K.; Ehrhardt, L.; Fazeli, W. & Janzarik, W. G. et al. (2020)
Biomedicines, 8(11) pp. 456. DOI: https://doi.org/10.3390/biomedicines8110456
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2020 | Journal Article | Research Paper |
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Drivas, T. G.; Li, D.; Nair, D.; Alaimo, J. T.; Alders, M.; Altmüller, J. & Barakat, T. S. et al. (2020)
European Journal of Human Genetics, 28(10) pp. 1422-1431. DOI: https://doi.org/10.1038/s41431-020-0654-4
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2020 | Journal Article |
A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome
Koehler, K.; Schuelke, M.; Hell, A. K. ; Huebner, A.; Schittkowski, M. & Brockmann, K. (2020)
American Journal of Medical Genetics. Part A, 182(3) pp. 570-575. DOI: https://doi.org/10.1002/ajmg.a.61435
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2021 | Journal Article | Research Paper |
Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state
Yigit, G.; Sheffer, R.; Daana, M.; Li, Y.; Kaygusuz, E.; Mor-Shakad, H. & Altmüller, J. et al. (2021)
Journal of Medical Genetics, 59(6) pp. 549-553. DOI: https://doi.org/10.1136/jmedgenet-2021-107769
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2021 | Journal Article | Research Paper |
Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy
Reinert, M.-C.; Pacheu-Grau, D.; Catarino, C. B.; Klopstock, T.; Ohlenbusch, A.; Schittkowski, M. & Wilichowski, E. et al. (2021)
Orphanet Journal of Rare Diseases, 16(1) art. 64. DOI: https://doi.org/10.1186/s13023-021-01690-y
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2022 | Journal Article |
Health-Related Quality of Life after Pediatric Traumatic Brain Injury: A Qualitative Comparison of Perspectives of Children and Adolescents after TBI and a Comparison Group without a History of TBI
Timmermann, D.; Krenz, U.; Schmidt, S.; Lendt, M.; Salewski, C.; Brockmann, K. & von Steinbüchel, N. (2022)
Journal of Clinical Medicine, 11(22) pp. 6783. DOI: https://doi.org/10.3390/jcm11226783
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2023 | Journal Article
Moebius syndrome and gastroschisis—The second case of a rare association
Brockmann, K. & Kaulfuß, S. (2023)
American Journal of Medical Genetics Part A, art. ajmg.a.63411. DOI: https://doi.org/10.1002/ajmg.a.63411
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2023 | Journal Article |
Psychometric evaluation and reference values for the German Postconcussion Symptom Inventory (PCSI-SR8) in children aged 8–12 years
Zeldovich, M.; Krol, L.; Timmermann, D.; Krenz, U.; Arango-Lasprilla, J. C.; Gioia, G. & Brockmann, K. et al. (2023)
Frontiers in Neurology, 14. DOI: https://doi.org/10.3389/fneur.2023.1266828
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2023 | Journal Article |
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
Serpieri, V.; Mortarini, G.; Loucks, H.; Biagini, T.; Micalizzi, A.; Palmieri, I. & Dempsey, J. C et al. (2023)
Journal of Medical Genetics,. DOI: https://doi.org/10.1136/jmg-2022-108725
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2023 | Journal Article |
A Multidimensional Approach to Assessing Factors Impacting Health-Related Quality of Life after Pediatric Traumatic Brain Injury
von Steinbuechel, N.; Krenz, U.; Bockhop, F.; Koerte, I. K.; Timmermann, D.; Cunitz, K. & Zeldovich, M. et al. (2023)
Journal of Clinical Medicine, 12(12) pp. 3895. DOI: https://doi.org/10.3390/jcm12123895
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2024 | Journal Article
Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases
Graessner, H.; Reinhard, C.; Bäumer, T.; Baumgärtner, A.; Brockmann, K.; Brüggemann, N. & Bültmann, E. et al. (2024)
Orphanet Journal of Rare Diseases, 19(1). DOI: https://doi.org/10.1186/s13023-024-03023-1
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2024 | Journal Article | Erratum
Corrigendum: Psychometric evaluation and reference values for the German Postconcussion Symptom Inventory (PCSI-SR8) in children aged 8–12 years
Zeldovich, M.; Krol, L.; Timmermann, D.; Krenz, U.; Arango-Lasprilla, J. C.; Gioia, G. & Brockmann, K. et al. (2024)
Frontiers in Neurology, 15 art. 1372640. DOI: https://doi.org/10.3389/fneur.2024.1372640
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2024 | Journal Article |
Applicability and clinical utility of the German rivermead post-concussion symptoms questionnaire in proxies of children after traumatic brain injury: an instrument validation study
Bockhop, F.; Greving, S.; Zeldovich, M.; Krenz, U.; Cunitz, K.; Timmermann, D. & Kieslich, M. et al. (2024)
BMC Neurology, 24(1) art. 133. DOI: https://doi.org/10.1186/s12883-024-03587-2
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